rs1060502949

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	3	Carrier of a pyridoxine-dependent epilepsy mutation
(G;G)	0	common in clinvar

Make rs1060502949(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

126592730

Gene

ALDH7A1

is a	snp
is	mentioned by
dbSNP	rs1060502949
dbSNP (classic)	rs1060502949
ClinGen	rs1060502949
ebi	rs1060502949
HLI	rs1060502949
Exac	rs1060502949
Gnomad	rs1060502949
Varsome	rs1060502949
LitVar	rs1060502949
Map	rs1060502949
PheGenI	rs1060502949
Biobank	rs1060502949
1000 genomes	rs1060502949
hgdp	rs1060502949
ensembl	rs1060502949
geneview	rs1060502949
scholar	rs1060502949
google	rs1060502949
pharmgkb	rs1060502949
gwascentral	rs1060502949
openSNP	rs1060502949
23andMe	rs1060502949
SNPshot	rs1060502949
SNPdbe	rs1060502949
MSV3d	rs1060502949
GWAS Ctlg	rs1060502949

Max Magnitude

3

ClinVar
Risk	rs1060502949(C;C)
Alt	rs1060502949(C;C)
Reference	Rs1060502949(G;G)
Significance	Probable-Pathogenic
Disease	Pyridoxine-dependent epilepsy
Variation	info
Gene	ALDH7A1
CLNDBN	Pyridoxine-dependent epilepsy
Reversed	1
HGVS	NC_000005.9:g.125928422C>G
CLNSRC
CLNACC	RCV000468096.1,